Canonical Allele Identifier: CA372788665

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 1804427
• ClinVar RCV Id: RCV002469728
• MyVariant Identifiers: chr9:g.2115849C>A (hg19) ; chr9:g.2115849C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115849C>A , CM000671.2:g.2115849C>A	GRCh38
NC_000009.11:g.2115849C>A , CM000671.1:g.2115849C>A	GRCh37
NC_000009.10:g.2105849C>A	NCBI36
NG_032162.1:g.105508C>A
NG_032162.2:g.140560C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3124C>A	ENSP00000515861.1:p.Arg1042Ser
ENST00000704352.1:c.1174-45837C>A	ENSP00000515863.1:n.1174-45837C>A
ENST00000704353.1:c.1174-45837C>A	ENSP00000515864.1:n.1174-45837C>A
ENST00000704354.1:c.3468C>A
ENST00000704355.1:c.1848C>A
ENST00000349721.8:c.3484C>A MANE Select	ENSP00000265773.5:p.Arg1162Ser
ENST00000357248.8:c.3484C>A	ENSP00000349788.2:p.Arg1162Ser
ENST00000635739.1:n.2152C>A
ENST00000636157.1:n.1091C>A
ENST00000638139.1:n.518C>A
ENST00000349721.7:c.3484C>A	ENSP00000265773.5:p.Arg1162Ser
ENST00000357248.7:c.3484C>A	ENSP00000349788.2:p.Arg1162Ser
ENST00000382194.6:c.3484C>A	ENSP00000371629.1:p.Arg1162Ser
ENST00000382203.5:c.3484C>A	ENSP00000371638.1:p.Arg1162Ser
ENST00000450198.6:c.3310C>A	ENSP00000392081.2:p.Arg1104Ser
ENST00000634760.1:c.3484C>A	ENSP00000489256.1:p.Arg1162Ser
ENST00000634772.1:c.62-3609C>A
ENST00000634925.1:n.975C>A
NM_001289396.1:c.3484C>A	NP_001276325.1:p.Arg1162Ser
NM_001289397.1:c.3310C>A	NP_001276326.1:p.Arg1104Ser
NM_003070.4:c.3484C>A	NP_003061.3:p.Arg1162Ser
NM_139045.3:c.3484C>A	NP_620614.2:p.Arg1162Ser
NM_003070.5:c.3484C>A MANE Select	NP_003061.3:p.Arg1162Ser
NM_001289397.2:c.3310C>A	NP_001276326.1:p.Arg1104Ser
NM_139045.4:c.3484C>A	NP_620614.2:p.Arg1162Ser